split hand-foot malformation 1 with sensorineural hearing loss
Findings
No curated finding names split hand-foot malformation 1 with sensorineural hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0009080), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Split footHPOHP:0001839
- 2 of 2 reported patients
- Split handHPOHP:0001171
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 2 reported patients
- Severe short statureHPOHP:0003510
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DLX5HGNC:2918
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · G2P · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: split hand-foot malformation 1 with sensorineural hearing loss
- Also called
- SHFM1Dsplit-hand/foot malformation 1 with sensorineural hearing loss